A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280311



Internal ID20489529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239130478..239130572hg38UCSC Ensembl
chr2:240052174..240052268hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4747413
Supporting Variants
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280311
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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